ClinVar Miner

List of variants reported as uncertain significance for Primary familial hypertrophic cardiomyopathy by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr) rs730880254 0.00099
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000371.4(TTR):c.368G>A (p.Arg123His) rs148538950 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_144573.4(NEXN):c.856C>T (p.Arg286Trp) rs199917913 0.00009
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala) rs374000722 0.00007
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe) rs767300277 0.00006
NM_001018005.2(TPM1):c.563+267G>A rs141757680 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro) rs142437308 0.00006
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145 0.00006
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His) rs369247906 0.00005
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln) rs730880617 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_001103.4(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427 0.00004
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn) rs886039029 0.00003
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser) rs370958401 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser) rs544624250 0.00003
NM_002471.4(MYH6):c.5348G>A (p.Arg1783His) rs745473249 0.00003
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu) rs145073736 0.00003
NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro) rs746392266 0.00003
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) rs367546859 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_000256.3(MYBPC3):c.317C>G (p.Pro106Arg) rs986848670 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His) rs730880905 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_002471.4(MYH6):c.345T>C (p.Tyr115=) rs770221652 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002880.4(RAF1):c.1657A>C (p.Asn553His) rs745876012 0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267 0.00001
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu) rs1041124171 0.00001
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile) rs768471574 0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_000169.3(GLA):c.465T>G (p.Asp155Glu) rs782197072
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000256.3(MYBPC3):c.1112C>G (p.Pro371Arg) rs397515887
NM_000256.3(MYBPC3):c.1466A>T (p.Asp489Val) rs1555122204
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu) rs1565630281
NM_000257.4(MYH7):c.1547A>G (p.Asp516Gly) rs1595086171
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.1447T>A (p.Cys483Ser) rs1553303424
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_002471.4(MYH6):c.4144A>G (p.Ile1382Val) rs1555333536
NM_002471.4(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_003476.5(CSRP3):c.209G>A (p.Gly70Glu) rs1590104371
NM_003673.4(TCAP):c.92C>G (p.Ser31Cys) rs1555606978
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) rs1595760799
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_020433.5(JPH2):c.58G>A (p.Gly20Arg) rs988100071
NM_020433.5(JPH2):c.754G>A (p.Asp252Asn) rs777934295

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.